A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3551357



Internal ID22420271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124433318..124433318hg38UCSC Ensembl
chr12:124917864..124917864hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381965
hg191965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14415776
SamplesHG00514
Known GenesNCOR2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3551357
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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